ClinVar Miner

Submissions for variant NM_003361.4(UMOD):c.19A>G (p.Thr7Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002733977 SCV003736214 uncertain significance Inborn genetic diseases 2021-10-22 criteria provided, single submitter clinical testing The c.19A>G (p.T7A) alteration is located in exon 2 (coding exon 1) of the UMOD gene. This alteration results from a A to G substitution at nucleotide position 19, causing the threonine (T) at amino acid position 7 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005011191 SCV005638570 uncertain significance Familial juvenile hyperuricemic nephropathy type 1 2024-01-08 criteria provided, single submitter clinical testing

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